中华耳科学杂志2025，Vol.23Issue(2)：240-247,8.DOI:10.3969/j.issn.1672-2922.2025.02.012
一个X连锁遗传性耳聋2型致病基因POU3F4新突变致多系统临床表现的研究
A Study on a Novel POU3F4 Mutation Associated with X-linked inheritance deafness-2 Leading to Multisystem Clinical Manifestations
摘要
Abstract
Objective The aim is to investigate the pathogenic role of a novel POU3F4 mutation in incomplete partition type Ⅲ(IP-Ⅲ)and its association with multisystem dysfunction.Methods Comprehensive evaluations were conducted on the proband,including detailed medical history collection,thorough physical examinations,audiological assessments,radiological tests,hormone level testing,whole-exome sequencing,and family segregation analysis.Results The pedigree was consistent with an X-linked recessive inheritance pattern.The proband exhibited bilateral profound sensorineural hearing loss,with imaging revealing typical incomplete partition type Ⅲ.Additionally,the proband presented with growth retardation,testicular hypoplasia,reduced pituitary height,and neurodevelopmental issues such as attention deficit.Laboratory findings indicated multiple functional abnormalities along the hypothalamic-pituitary-endocrine axis.Whole-exome sequencing identified a novel POU3F4 mutation,c.401_404dup(p.Gln136Leufs*58),which was consistent with genotypic and phenotypic co-segregation.Conclusion POU3F4 mutations may result in multisystem dysfunction.However,the definition and treatment strategies for syndromic hearing loss associated with POU3F4 mutations require further investigation and validation.关键词
X连锁遗传性耳聋2型/POU3F4基因/不完全分隔Ⅲ型内耳畸形/多系统临床症状Key words
X-linked inheritance deafness-2/POU3F4/incomplete partition type Ⅲ(IP-Ⅲ)/multisystem clinical manifestations引用本文复制引用
刘硕,齐心,黄莎莎,戴朴,张帆,苏钰..一个X连锁遗传性耳聋2型致病基因POU3F4新突变致多系统临床表现的研究[J].中华耳科学杂志,2025,23(2):240-247,8.基金项目
国家耳鼻咽喉疾病临床医学研究中心开放课题(202200012) （202200012）
海南省自然科学基金重点研发计划(ZDYF2020142) （ZDYF2020142）
国家自然科学基金青年项目(81400471) （81400471）
